chromosome disorders by TANIA BARRIOS CHONG https://padlet.com/tania_barrios/lv1n1l0apt42la5k Choose one disorder and help to complete the following information about it: type of abnormality, signs/symptoms, appearance, prognosis, and frequency. Try to not repeat information en-us 2021-02-24 22:35:59 UTC 2024-11-21 18:47:11 UTC hello@padlet.com https://padlet.net/icons/png/1f9ec.png What causes Trisomy 21? strawmelrry https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241124654 During cell division (both mitosis and meiosis), one of the chromosome 21 doesn't separate as it's supposed to. This may cause  Down syndrome.

People with Down syndrome / Trisomy 21, makes some of their cells have an extra chromosome.

Recovered from: https://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-in-children-90-P02356 ]]> 2021-02-25 14:14:50 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241124654 Other facts about Trisomy 21 https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241139429 - It is also known as Down Syndrome, due to it being present in 95% of Trisomy 21 cases
- It affects 1 in 700 babies.

Karyogram of a person affected by Trisomy 21:]]> 2021-02-25 14:17:23 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241139429 Symptoms https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241145352
  • Flattened face
  • Small head
  • Short neck
  • Protruding tongue
  • Upward slanting eye lids (palpebral fissures)
  • Unusually shaped or small ears
  • Poor muscle tone
  • Broad, short hands with a single crease in the palm
  • Relatively short fingers and small hands and feet
  • Excessive flexibility
  • Tiny white spots on the colored part (iris) of the eye called Brushfield's spots
  • Short height
    • Recovered from: 
    https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
    ]]>     2021-02-25 14:18:24 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241145352     What causes it? https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241154059 changes in a gene called the fragile X mental retardatio, the FMR1 gene usually makes a protein called fragile X mental retardation protein (FMRP), FMRP is needed for normal brain development. People who have FXS do not make this protein.]]> 2021-02-25 14:19:53 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241154059 What causes Patau syndrome? https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241156032 Is caused by chromosomal abnormality in which some or all of the cells of the body contain extra genetic material from chromosome 13.]]> 2021-02-25 14:20:13 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241156032 Characteristics https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241156843 The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers. Physical development for children affected by Patau Syndrome occurs more slowly than children without Patau syndrome.]]> 2021-02-25 14:20:21 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241156843 What’s Cri du chat Syndrome? https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241158862 Also known as “5p- syndrome and cat cry syndrome”

    It’s rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm of chromosome 5; The cause of this rare chromosomal deletion is unknown.]]>     2021-02-25 14:20:42 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241158862     Prognosis https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241160081 Aproximately 90% of infants with this syndrome die within the first year of life]]> 2021-02-25 14:20:55 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241160081 SYMPTOMS assc2004 https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241160672  - a high-pitched cat-like cry
    - mental retardation
    -    delayed development
    -distinctive facial features
    -small head size (microcephaly)
    -widely-spaced eyes (hypertelorism)
    -low birth weight
    -    weak muscle tone (hypotonia) in infancy]]>     2021-02-25 14:21:00 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241160672     Treatments https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241162058 Down syndrome, or Trisosmy 21, is not curable or preventible but there are treatments available for some of the symptons a person with this condition may suffer from such as heart problems, muscular weakness and spinal curvatures.]]> 2021-02-25 14:21:14 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241162058 Characteristics https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241162847 Fragile X syndrome physical attributes are a prominent, broad forehead, large ears, long face, stabismus(squint or crossed eyes), a prominent jaw, hollow chest and/or scoliosis. ]]> 2021-02-25 14:21:23 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241162847 Symptoms https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241167641 -Developmental delays
    -Learning disabilities
    -Social and behavior problems, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active]]>     2021-02-25 14:22:11 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241167641     How does it affect in a person? https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241172384 People affected by Patau syndrome many times have heart defects, small or poorly developed eyes, spinal cord or brain abnormalities, cleft lip or palate, extra toes or fingers, and decreased muscle tone.]]> 2021-02-25 14:22:59 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241172384 Frequency https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241173437 1 case per 8,000-12,000 live births]]> 2021-02-25 14:23:10 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241173437 Appearance https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241175106 Its most characteristic feature is the high pitched cat-like cry. It also causes a small head size and a characteristic facial appearance with an extra fold of skin in the corners of the eyes.

    ]]>     2021-02-25 14:23:27 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241175106     The cause of Patau syndrome is a third copy of the chromosome 13 in each body cell--> this disrputs the normal course of development and causing the main characteristics of trisonomy 13. https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241178769 From the Website: https://medlineplus.gov/genetics/condition/trisomy-13/

    ]]>     2021-02-25 14:24:04 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241178769     Frequency https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241181058 1 in 50,000 livebirths 
    1.5 in a 1000 among individual with mental retardation 

    ]]>     2021-02-25 14:24:26 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241181058     Appearance https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241184923 Decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers]]> 2021-02-25 14:25:03 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241184923 TREATMENTS https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241189056 We need to mention that there’s no cure for cri du chat syndrome; Some treatments for people with this syndrome are:

    • Physiotherapy to improve poor muscle tone speech therapy.

    • Communication alternatives, such as sign language, since speech is usually delayed, often severely.

    • Occupational therapy to teach coping strategies and new skills.
    ]]>     2021-02-25 14:25:42 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241189056     assc2004 https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241190152 2021-02-25 14:25:52 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241190152 Diagnosis. strawmelrry https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241194692 It can appear on ultrasounds of babies around 10-14 weeks.

    Its diagnosis can be also be done by collecting a blood test to check if the cells have an extra chromosome.]]>     2021-02-25 14:26:36 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241194692     Characteristics https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241202642 The characteristic high-pitched, shrill cry associated with cri du chat syndrome is present during the first few weeks of life. The cry, which resembles the mewing of a cat, becomes less pronounced as affected infants grow older.



    ]]>     2021-02-25 14:27:50 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241202642     PROGNOSIS assc2004 https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241206432 Some 60% of the patients need regular medical care and nearly all are mentally retarded. However a wide spectrum of developmental abilities is displayed and a number of patients can be reared at home for several years. Life expectancy depends on the number and severity of birth defects.]]> 2021-02-25 14:28:29 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241206432 Prognosis https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241210742 Approximately 75% of concepti with trisomy 21 die in embryonic or fetal life. Approximately 25-30% of patients with Down syndrome die during the first year of life. Adults with Down syndrome may live about 60 years]]> 2021-02-25 14:29:12 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241210742 https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241212871 2021-02-25 14:29:35 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241212871 Health Problems for Children with Cri du chat Syndrome https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241234389 Children with cri du chat syndrome mostly experience health problems like:

    • Difficulties with suckling and swallowing
    • Gastric reflux
    • Constipation
    • High rate of infections, such as ear and upper respiratory tract infections
    • Poor muscle tone
    • eye problems, such as a squint (strabismus).
    ]]>     2021-02-25 14:33:15 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241234389     Frequency https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241238736 The fragile X syndrome affects about 1 in 4,000 males and 1 in 6,000 to 8,000 females in the USA; that is, it affects about twice as many males as it does females. 
    about four times as many females appear to be carriers of the altered gene as do males (1:250 females and 1:1000 males).]]>     2021-02-25 14:33:59 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241238736     https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241240097 2021-02-25 14:34:13 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241240097 Causes: https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241245040 The causes of Edward's syndrome is that the individual has 3 copies of the chromosome 18 instead of two. This happens because of a change in the sperm or egg
     before the baby is conceived.]]>     2021-02-25 14:35:03 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241245040     Signs/ Symptoms: https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241254247 --Microcephaly                                        --Micognathia (abnormally small jaw and mouth)                                    --Long overlapping fingers/ undeveloped fingernails                       --Scrunched fists                                   --Low-set ears                                        --Arched spine and abnormally shaped chest                         
    --Crossed legs                                    -- --Umbilical hernia                   ]]>     2021-02-25 14:36:38 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241254247     https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241259371 2021-02-25 14:37:31 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241259371 Pregnosis https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241263049 Life expectancy for people with fragile X syndrome is generally normal. Many affected people participate in an active lifestyle and have good health. Some people are more prone to a number of medical problems such as ear infections and seizures.]]> 2021-02-25 14:38:10 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241263049 https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241271642 2021-02-25 14:39:32 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241271642 In general https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241276409 The severity of the symptoms is determined by the size and location of the deletion on chromosome 5. 

    This deletion occurs very early in the development of an embryo and cri du chat syndrome is usually not inherited in families.]]>     2021-02-25 14:40:19 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241276409     assc2004 https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241279345 2021-02-25 14:40:48 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241279345 Appearance: https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241294472 little people]]> 2021-02-25 14:43:22 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241294472 Prognosis: https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241305684 -affects how long a baby may survive
    -Sadly many babies die after being born
    -Just About 13% of babies pass their first year]]>     2021-02-25 14:45:19 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241305684     Frequency: https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241318918 1 per 6000. 
    Is the third place most found autosomal trisomy

    ]]>     2021-02-25 14:47:38 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241318918     Children born with Edwards syndrome may have some or all of these characteristics: https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241321510 kidney malformations, structural heart defects at birth, intestines protruding outside the body, esophageal atresia, intellectual disability.]]> 2021-02-25 14:48:07 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241321510 Treatment: https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241336700 Edwards syndrome is untreated and is usually fatal before birth or during the first year of life.]]> 2021-02-25 14:50:50 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241336700 https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241344746 2021-02-25 14:52:13 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1241344746 how is it diagnosed? https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1243638358 this syndrome is diagnosed since  pregnancy.  They see if the mom has had any history of genetic abnormalities, or if she had a previous miscarriages. ]]> 2021-02-25 23:32:44 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1243638358 life expectancy https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1243657441 It depends if the baby does not have any immediate life-threatening problems. For babies that have survived their first 30 days of life, 36% were alive at one year. About 10% of children born with trisomy 18 survive until 10 years of age.]]> 2021-02-25 23:43:41 UTC https://padlet.com/tania_barrios/lv1n1l0apt42la5k/wish/1243657441